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389 results

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Arrayed CRISPR libraries for the genome-wide activation, deletion and silencing of human protein-coding genes.
Yin JA, Frick L, Scheidmann MC, Liu T, Trevisan C, Dhingra A, Spinelli A, Wu Y, Yao L, Vena DL, Knapp B, Guo J, De Cecco E, Ging K, Armani A, Oakeley EJ, Nigsch F, Jenzer J, Haegele J, Pikusa M, Täger J, Rodriguez-Nieto S, Bouris V, Ribeiro R, Baroni F, Bedi MS, Berry S, Losa M, Hornemann S, Kampmann M, Pelkmans L, Hoepfner D, Heutink P, Aguzzi A. Yin JA, et al. Among authors: heutink p. Nat Biomed Eng. 2024 Dec 4. doi: 10.1038/s41551-024-01278-4. Online ahead of print. Nat Biomed Eng. 2024. PMID: 39633028
Direct and indirect regulation of β-glucocerebrosidase by the transcription factors USF2 and ONECUT2.
Ging K, Frick L, Schlachetzki J, Armani A, Zhu Y, Gilormini PA, Dhingra A, Böck D, Marques A, Deen M, Chen X, Serdiuk T, Trevisan C, Sellitto S, Pisano C, Glass CK, Heutink P, Yin JA, Vocadlo DJ, Aguzzi A. Ging K, et al. Among authors: heutink p. NPJ Parkinsons Dis. 2024 Oct 22;10(1):192. doi: 10.1038/s41531-024-00819-7. NPJ Parkinsons Dis. 2024. PMID: 39438499 Free PMC article.
Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale.
Junker J, Lange LM, Vollstedt EJ, Roopnarain K, Doquenia MLM, Annuar AA, Avenali M, Bardien S, Bahr N, Ellis M, Galandra C, Gasser T, Heutink P, Illarionova A, Kanana Y, Keller Sarmiento IJ, Kumar KR, Lim SY, Madoev H, Mata IF, Mencacci NE, Nalls MA, Padmanabhan S, Shambetova C, Solle JC, Tan AH, Trinh J, Valente EM, Singleton A, Blauwendraat C, Lohmann K, Fang ZH, Klein C; Global Parkinson's Genetics Program (GP2). Junker J, et al. Among authors: heutink p. Mov Disord. 2024 Oct;39(10):1868-1873. doi: 10.1002/mds.29925. Epub 2024 Jul 30. Mov Disord. 2024. PMID: 39076159
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa-Induced Dyskinesia.
Sosero YL, Bandres-Ciga S, Ferwerda B, Tocino MTP, Belloso DR, Gómez-Garre P, Faouzi J, Taba P, Pavelka L, Marques TM, Gomes CPC, Kolodkin A, May P, Milanowski LM, Wszolek ZK, Uitti RJ, Heutink P, van Hilten JJ, Simon DK, Eberly S, Alvarez I, Krohn L, Yu E, Freeman K, Rudakou U, Ruskey JA, Asayesh F, Menéndez-Gonzàlez M, Pastor P, Ross OA, Krüger R; NCER‐PD Consortium; Corvol JC, Koks S, Mir P, De Bie RMA, Iwaki H, Gan-Or Z; International Parkinson's Disease Genomic Consortium. Sosero YL, et al. Among authors: heutink p. Mov Disord. 2024 Oct;39(10):1773-1783. doi: 10.1002/mds.29960. Epub 2024 Aug 12. Mov Disord. 2024. PMID: 39132902
Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.
Chatterjee M, Özdemir S, Fritz C, Möbius W, Kleineidam L, Mandelkow E, Biernat J, Doğdu C, Peters O, Cosma NC, Wang X, Schneider LS, Priller J, Spruth E, Kühn AA, Krause P, Klockgether T, Vogt IR, Kimmich O, Spottke A, Hoffmann DC, Fliessbach K, Miklitz C, McCormick C, Weydt P, Falkenburger B, Brandt M, Guenther R, Dinter E, Wiltfang J, Hansen N, Bähr M, Zerr I, Flöel A, Nestor PJ, Düzel E, Glanz W, Incesoy E, Bürger K, Janowitz D, Perneczky R, Rauchmann BS, Hopfner F, Wagemann O, Levin J, Teipel S, Kilimann I, Goerss D, Prudlo J, Gasser T, Brockmann K, Mengel D, Zimmermann M, Synofzik M, Wilke C, Selma-González J, Turon-Sans J, Santos-Santos MA, Alcolea D, Rubio-Guerra S, Fortea J, Carbayo Á, Lleó A, Rojas-García R, Illán-Gala I, Wagner M, Frommann I, Roeske S, Bertram L, Heneka MT, Brosseron F, Ramirez A, Schmid M, Beschorner R, Halle A, Herms J, Neumann M, Barthélemy NR, Bateman RJ, Rizzu P, Heutink P, Dols-Icardo O, Höglinger G, Hermann A, Schneider A. Chatterjee M, et al. Among authors: heutink p. Nat Med. 2024 Jun;30(6):1771-1783. doi: 10.1038/s41591-024-02937-4. Epub 2024 Jun 18. Nat Med. 2024. PMID: 38890531 Free PMC article.
Understanding monogenic Parkinson's disease at a global scale.
Junker J, Lange LM, Vollstedt EJ, Roopnarain K, Doquenia MLM, Annuar AA, Avenali M, Bardien S, Bahr N, Ellis M, Galandra C, Gasser T, Heutink P, Illarionova A, Kanana Y, Keller Sarmiento IJ, Kumar KR, Lim SY, Madoev H, Mata IF, Mencacci NE, Nalls MA, Padmanabhan S, Shambetova C, Solle J, Tan AH, Trinh J, Valente EM, Singleton A, Blauwendraat C, Lohmann K, Fang ZH, Klein C; Global Parkinson’s Genetics Program (GP2). Junker J, et al. Among authors: heutink p. medRxiv [Preprint]. 2024 Apr 9:2024.03.12.24304154. doi: 10.1101/2024.03.12.24304154. medRxiv. 2024. Update in: Mov Disord. 2024 Oct;39(10):1868-1873. doi: 10.1002/mds.29925 PMID: 38529492 Free PMC article. Updated. Preprint.
389 results